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Penetrance
Known as:
Genetic Penetrance
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From…
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National Institutes of Health
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2 relations
Anticipation, Genetic
Genes, Modifier
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Variability in gene expression underlies incomplete penetrance
A. Raj
,
Scott A. Rifkin
,
Erik C. Andersen
,
A. van Oudenaarden
Nature
2009
Corpus ID: 4302051
The phenotypic differences between individual organisms can often be ascribed to underlying genetic and environmental variation…
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Highly Cited
2007
Highly Cited
2007
Meta-analysis of BRCA1 and BRCA2 penetrance.
Sining Chen
,
G. Parmigiani
Journal of Clinical Oncology
2007
Corpus ID: 33003455
PURPOSE Genetic counseling is now routinely offered to individuals at high risk of carrying a BRCA1 or BRCA2 mutation. Risk…
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Highly Cited
2006
Highly Cited
2006
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
S. Seal
,
Deborah J. Thompson
,
+15 authors
The Breast Cancer Susceptibility Collaboration
Nature Genetics
2006
Corpus ID: 28744765
We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast…
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Highly Cited
2006
Highly Cited
2006
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
D. Benn
,
A. Gimenez-Roqueplo
,
+18 authors
B. Robinson
Journal of Clinical Endocrinology and Metabolism
2006
Corpus ID: 46383563
CONTEXT The identification of mutations in genes encoding peptides of succinate dehydrogenase (SDH) in pheochromocytoma…
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Review
2004
Review
2004
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
S. Jacquemont
,
R. Hagerman
,
+13 authors
P. Hagerman
Journal of the American Medical Association (JAMA…
2004
Corpus ID: 29353634
CONTEXT Premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are frequent in the general…
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Review
2002
Review
2002
Listening to silence and understanding nonsense: exonic mutations that affect splicing
L. Cartegni
,
S. Chew
,
A. Krainer
Nature reviews genetics
2002
Corpus ID: 15307589
Point mutations in the coding regions of genes are commonly assumed to exert their effects by altering single amino acids in the…
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Highly Cited
2002
Highly Cited
2002
Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
H. Meijers-Heijboer
,
A. V. D. van den Ouweland
,
+38 authors
M. Stratton
Nature Genetics
2002
Corpus ID: 9661768
Mutations in BRCA1 and BRCA2 confer a high risk of breast and ovarian cancer, but account for only a small fraction of breast…
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Highly Cited
2001
Highly Cited
2001
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.
H. Risch
,
J. McLaughlin
,
+10 authors
S. Narod
American Journal of Human Genetics
2001
Corpus ID: 32916464
A population-based series of 649 unselected incident cases of ovarian cancer diagnosed in Ontario, Canada, during 1995-96 was…
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Highly Cited
1999
Highly Cited
1999
Low penetrance in the long-QT syndrome: clinical impact.
S. Priori
,
C. Napolitano
,
P. Schwartz
Circulation
1999
Corpus ID: 17993970
BACKGROUND It is still currently held that most patients affected by the long-QT syndrome (LQTS) show QT interval prolongation or…
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Highly Cited
1998
Highly Cited
1998
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
D. Ford
,
D. Easton
,
+35 authors
M. Zelada-Hedman
American Journal of Human Genetics
1998
Corpus ID: 34902111
The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families…
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